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Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report
BACKGROUND: Alström syndrome (AS) is a rare autosomal recessive disease that is generally induced by mutations of the Alström syndrome 1 (ALMS1) gene. We report a case of AS, extend the spectrum of ALMS1 mutations and highlight the biological role of ALMS1 to explore the relationship between dilated...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895183/ https://www.ncbi.nlm.nih.gov/pubmed/35321175 http://dx.doi.org/10.12998/wjcc.v10.i7.2330 |